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Variant ID | 127 |
---|---|
Genomic Coordinate (GRCh38) | g.22076388_22076474del |
Variant | c.350-?_436+?del |
Variant Start Position | 350 |
Location | Intron 3 |
Amino Acid Change | Deletion (Exon 4) |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | - | Effect Type | Deletion |
Variant Type | CNV |
PMID | 32253725, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | Fractures/Pseudo-Fractures, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature |
ACMG Categories | - |
ACMG Explanations | - |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | - |
No Contrary Evidence Found | No |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |